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Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Lu YangQianli ZhangShiyu ZhangYuehua LiuYaping LiuWang Tao
Published in: Molecular genetics & genomic medicine (2020)
We found no hot spot mutations in ATP2C1 correlated with the generalized pattern of HHD. Our study expanded the spectrum of ATP2C1 mutations, which would be useful for disease diagnosis and genetic counseling.
Keyphrases
  • genome wide
  • copy number
  • case report
  • gene expression
  • hepatitis c virus